ClinVar Miner

Submissions for variant NM_014630.3(ZNF592):c.169T>G (p.Ser57Ala)

gnomAD frequency: 0.00022  dbSNP: rs145206161
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004039410 SCV003684763 uncertain significance not specified 2022-01-27 criteria provided, single submitter clinical testing The c.169T>G (p.S57A) alteration is located in exon 4 (coding exon 1) of the ZNF592 gene. This alteration results from a T to G substitution at nucleotide position 169, causing the serine (S) at amino acid position 57 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001573386 SCV005213338 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573386 SCV001799191 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573386 SCV001968592 likely benign not provided no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.